An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.
Calcium Signaling
Mitochondria
Muscle Disease
ORAI1
Proteomics
Journal
The EMBO journal
ISSN: 1460-2075
Titre abrégé: EMBO J
Pays: England
ID NLM: 8208664
Informations de publication
Date de publication:
17 Oct 2024
17 Oct 2024
Historique:
received:
24
01
2024
accepted:
27
09
2024
revised:
19
09
2024
medline:
18
10
2024
pubmed:
18
10
2024
entrez:
17
10
2024
Statut:
aheadofprint
Résumé
Tubular aggregate myopathy (TAM) is a heritable myopathy primarily characterized by progressive muscle weakness, elevated levels of creatine kinase (CK), hypocalcemia, exercise intolerance, and the presence of tubular aggregates (TAs). Here, we generated a knock-in mouse model based on a human gain-of-function mutation which results in a severe, early-onset form of TAM, by inducing a glycine-to-serine point mutation in the ORAI1 pore (Orai1
Identifiants
pubmed: 39420094
doi: 10.1038/s44318-024-00273-4
pii: 10.1038/s44318-024-00273-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIAMS NIH HHS
ID : R21 AR081068
Pays : United States
Organisme : Muscular Dystrophy Association (MDA)
ID : MDA 956014
Organisme : Fondazione Telethon (FT)
ID : GGP19231
Informations de copyright
© 2024. The Author(s).
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